GENETICS GLOSSARY

Compiled by Judith Hall, M.D. and William Horton, M.D., Growth, Genetics and Hormones Journal, June 1997. Reproduced with permission from Robert M. Blizzard, M.D., Editor

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acceptor splice site The boundary between the 3' end of an intron and the 5' end of the adjacent exon.

allogeneic The allelic variation seen among members of the same species.

anticipation Phenomenon in which the severity of a genetic condition appears to become more severe and/or arise at an earlier age with subsequent generations (seen in many trinucleotide repeat permutations).

ascertainment The selection of individuals for inclusion in a genetic study (severity, age of onset, certain features of the trait).

apoptosis Programmed cell death; a physiologic process conserved to remove unwanted cells.

association In a specific population, the occurrence together of 2 or more different phenotypes more often than expected by chance.

ATP Abbreviation for adenosine triphosphate. The energy-yielding molecule in cells that is used to drive chemical reactions.

autophagy Digestion of the cell's own organelles.

autosome Any chromosome other than the X or Y. Humans have 22 pairs of autosomal chromosomes.

autosomal disease A disease encoded by a gene on one of the 22 pairs of autosomes.

autosomal dominant A trait that is expressed in an individual who is heterozygous for a particular gene when the mutant allele is on one of the autosomes.

autosomal modifier gene A gene that modifies the action of the autosomes.

autosomal recessive A trait that is expressed in an individual who is homozygous for a particular gene.

BAC See bacterial artificial chromosome.

backcross A genetic crossing of a heterozygous organism and one of its homozygous parents.

bacterial artificial chromosome (BAC) Artificial chromosome vector derived from bacteria used for cloning relatively large DNA fragments.

balanced translocation A rearrangement translocation with no apparent loss or gain of chromosomal material, resulting in a clinically normal but genetically "abnormal" person.

banding The differential staining of a chromosome by a variety of techniques that results in a specific pattern of positively and negatively stained bands for each chromosomal pair.

base analogue A substance that can mimic the chemical behavior of 1 of the 4 DNA bases.

base pair substitution The replacement of 1 base pair by another.

Barr body The sex chromatin mass located adjacent to the nuclear membrane in interphase nuclei, which corresponds to an inactivated X chromosome. One Barr body is seen in the cells of 46,XX and 47,XXY individuals, and none in the cells of 45,X and 46,XY individuals.

Bayesian analysis Mathematical method for calculating probability of the carrier state in mendelian disorders by combining several independent likelihoods.

bioinformatics The discipline of using computers to address information problems in the life sciences; it involves the creation of electronic data bases on genomes, protein sequences, etc.

bivalent A pair of homologous chromosomes in association as seen at metaphase of the first meiotic division.

CAG/CTG repeats Abbreviation for cytosine-adenine-guanine triplet nucleotide and cytosine-thymine- guanine triplet nucleotide repeats; they are associated with unstable mutations.

candidate gene A gene known to be located in the region of interest whose product has biochemical or other properties suggesting that it may prove to be the disease gene being sought.

candidate gene approach Strategy to identify disease-associated genes based on finding candidate genes in a chromosome region in which a disorder is mapped.

cap A modified nucleotide added to the 5' end of a growing mRNA chain, apparently required for normal processing, stability, and the translation of mRNA.

cap site The site of initiation of transcription.

CAT assay Reporter gene assay used to measure activity of a promoter under different conditions, such as to define elements of a promoter or to study signals that activate an intact enhancer/promoter. CAT is the abbreviation for the enzyme, chloramphenicol acetyl transferase, the activity of which is measured in the assay.

cell line A cultured cell type that can be reproduced indefinitely, is, immortalized.

CG island Unmethylated cytosine-guanine sequences that are often found near the 5' ends of some genes.

chain termination mutation A mutation that generates a stop codon, thus preventing further synthesis of the polypeptide chain.

chromosome aberration An abnormality of chromosome number or structure.

clinical genetics That part of medical genetics concerned with health and illness in individuals and families.

clinical heterogeneity Refers here to the production of clinically different phenotypes from mutation in the same gene.

codominance The expression of both alleles in a heterozygous individual, e.g., presence of both hemoglobin A and S on electrophoresis in an individual heterozygote for sickle-cell disease.

complementary DNA (cDNA) DNA synthesized from an mRNA template, using reverse transcriptase.

complementation analysis A genetic test for determining whether 2 mutations producing a similar phenotype are allelic.

concordance Presence of the same trait in both members of a pair of twins (or set of individuals).

confined placental mosaicism Mosaicism that is seen only in the placenta but not in the fetus.

congenic mouse strain A strain that differs from another in the region containing 1 genetic locus.

consultand Individual seeking, or referred for, genetic counseling.

contig A series of contiguous, overlapping, cloned DNA fragments.

copy number The number of copies of a transgene integrated into a host genome; used to describe transgenic animals.

crossing over Reciprocal breaking and rejoining of homologous chromosomes in meiotic prophase I that results in exchange of chromosomal segments.

deletion Loss of part or a whole chromosome or loss of DNA nucleotide bases.

dicentric Refers to an aberrant chromosome that contains 2 centromeres.

diploid The number of chromosomes in most somatic cells, which is double the number found in the gametes (the haploid number). In humans, the diploid chromosome number is 46.

discordant A twin pair (or set of individuals) in which one member exhibits a certain trait and the other does not.

dizygotic The product of fertilization of 2 separate eggs by 2 separate sperm; nonidentical twin pair.

DNA construct A DNA sequence that has been modified to yield a recombinant DNA molecule.

DNA ligase Enzyme that catalyzes religation (reconnection) of 2 fragments of DNA.

DNA rearrangements Recombination of DNA segments, eg, in cells of the immune system, the variable (V), diversity (D), and joining (J) regions somatically rearrange to generate functional antibody genes.

dominant (trait) Those conditions that are expressed in heterozygotes, ie, individuals with 1 copy of the mutant gene and 1 copy of the normal allele; refers to phenotype.

double heterozygote An individual with 1 mutant allele at each of 2 different loci.

donor site Guanine-thymidine sequence that defines the splice site at the 5' end of an intron.

duplication The presence of an extra copy of chromosome material. At the gene level, this refers to the presence of more than 1 copy of a structured gene, usually having arisen through unequal crossing over. At the chromosomal level, this refers to an unbalanced state in which there may be a triple dose of a portion of an autosome, usually occurring as the result of unequal segregation of a translocation in meiosis (trisomy).

ecogenetic disorder A disorder resulting from the interaction of a common environmental factor with a specific genetic predisposition, e.g., cigarette smoking causing emphysema in alpha- antitrypsin deficiency.

electroporation Application of a short, high-voltage electric pulse to cells in the presence of DNA to permit DNA to enter the cells.

embryo biopsy Potential method for preimplantation diagnosis of genetic disorders used in conjunction with in vitro fertilization in which cells are removed and analyzed at a very early stage in embryonic development.

embryonic stem cells Cells derived from early embryos that can replicate indefinitely and differentiate into many cell types. Stem cells serve as a continuous source of new cells; they may become incorporated into many tissues to produce chimeric animals when introduced into early embryos, i.e., blastocysts.

empiric risk Risk of recurrence for multifactorial or polygenic disorders based on family studies (observed risk).

endonuclease Enzyme that cleaves bonds between nucleotides of single- or double-stranded DNA or of RNA at specific sequences of nucleotides.

env gene Encodes capsule or envelope protein of a retrovirus.

epigenetic A factor that changes the phenotype without changing the genotype.

episome A plasmid that can exist either independently in the cytoplasm or as an integrated part of the genome of its bacterial host.

ES cells See embryonic stem cells.

EST See expressed sequence tag.

exonuclease An enzyme that cleaves nucleotide chains at their terminal bonds only.

expressivity The degree to which a heritable trait is expressed in an individual. "Variable expressivity" refers to the variation in phenotype and in severity produced by the same gene in different individuals.

expressed sequence tag A short fragment of an expressed sequence, cDNA, which serves as a landmark for gene mapping.

expression The observable effects of an active gene.

F1 hybrids The first generation of animals generated from 2 different inbred strains. These animals are genetically identical to one another but different from either inbred parent.

F2 hybrids The progeny produced from matings between F1 animals. These animals are different from one another and will contain different mixtures of the genetic variations that were present in the original inbred progenitors.

flanking sequence A region of a gene preceding or following the transcribed region.

footprinting (DNA footprinting) Assay used to study DNAbinding proteins.

founder Refers to animals generated from genetically altered eggs or embryos, is, eggs microinjected with a transgene.

founder effect The high frequency of a mutant gene in a rapidly expanding population founded by a small ancestral group when 1 or more of the founders were, by chance, carriers of the mutant gene.

Gel-shift assay An assay used to detect specific protein binding to DNA. Such binding creates complexes that migrate more slowly during gel electrophoresis than free DNA. Also known as mobility-shift assay.

gene family A group of genes having similar DNA sequence evolved from a single ancestral gene. These genes may or may not be located in the same region of a chromosome.

genetic code The base triplets that specify the 20 different amino acids.

gene flow Gradual diffusion of genes from one population to another, as a result of migration and intermarriages.

gene therapy A strategy in which therapeutic genes are introduced into a person's cells to correct a disease or genetic flaw.

genetic drift Random fluctuations in gene frequencies, most evident in small populations.

genetic heterogeneity Different mutations causing a similar phenotype; allelic heterogeneity refers to different mutations at the same locus, whereas locus heterogeneity refers to mutations at different loci.

genetic lethal A genetic disease that prevents fertility.

genetic mapping Determination of the relative positions of genes on a DNA molecule (chromosome or plasmid); distances are measured in linkage units, i.e., centimorgans (cM), between them.

genetic marker A polymorphic genetic property that can be used to distinguish the parental origin of alleles.

haplotype A set of closely linked genes that tends to be inherited together as a unit, as occurs with the A, B. and C loci of the human leukocyte antigen (HLA) gene complex.

HA Abbreviation for heteroduplex analysis.

heteroduplex Refers to a region of a double-stranded DNA molecule with noncomplementary strands that originated from different duplex DNA molecules.

heteromorphism A normal morphologic or staining variant of a chromosome.

heteroplasmy The existence of more than 1 mitochondrial type in the cells of an individual, i.e., the presence of both normal and mutant mt DNA in a single individual.

heteroploid An individual with an abnormal number of chromosomes (as compared to euploid, which is the normal number of chromosomes).

heterotetramer A molecule consisting of 4 subunits, at least 1 of which differs from the others.

homoplasmy The presence of a single population of mt DNA in the cells of a single individual. This is normal.

homotetramer A molecule consisting of 4 identical subunits.

hybrid cell A cell formed by fusion of 2 cells of different origin in which the 2 nuclei have merged into 1. Can be cloned to produce hybrid cell lines.

inbred mouse strain A strain of mice that has been maintained by successive brother to sister matings over many generations, e.g., BALB/c and C57BL/6 mice strains.

inducer A molecule that induces the expression of a gene.

initiation factor A protein that associates with the small subunit of a ribosome when protein synthesis begins.

insertional mutagenesis The production of a mutation by insertion of 1 or more copies of a transgene into a host genome.

in situ Refers to carrying out experiments or tests with intact tissues.

intergenic DNA The untranscribed DNA of unknown function that makes up a large proportion of the total DNA.

inversion A structural rearrangement of a chromosome in which 2 breaks occur, followed by the reinsertion of the chromosome segment but in reversed order. It may be either paracentric, i.e., it does not include the centromere, or pericentric, i.e., it does include the centromere.

in vitro Refers to a biologic or biochemical phenomenon that occurs outside of a living organism.

in vivo Refers to a biologic or biochemical phenomenon that occurs within a living organism.

isochromosome A structural chromosome rearrangement caused by the division of a chromosome along an axis perpendicular to the usual axis of division; results in chromosomes with either 2 short arms or 2 long arms.

isodisomy The presence of 2 identical homologues of a transmitted chromosome from only 1 of the parents. junk DNA with no apparent function.

kinetochore A structure at the centromere to which the spindle fibers are attached.

lagging strand of DNA The new strand of a DNA replicating in the 3' to 5' direction. It is synthesized in short fragments in the 5'to 3' direction that are subsequently joined together.

lethal factor An abnormality of the genome that leads to death in utero, e.g., numerous chromosomal anomalies.

ligand A molecule that can bind to a receptor and thereby induce a signal in the cell, e.g., a hormone.

linker DNA A synthetic DNA that carries the recognition site for a restriction enzyme and that can bind 2 DNA fragments. Also, the stretch of DNA between 2 nucleosomes.

linkage map A chromosome map showing the relative positions of genetic markers of a given species, as determined by linkage analysis; not the same as a physical, or gene, map, which uses linkage analysis, cytogenetic examination, and physical techniques to generate the map.

linkage phase The arrangement of alleles of linked loci on chromosomes.

loss of heterozygosity Describes a locus (or loci) at which a deletion or other process has converted the locus from heterozygosity to homozygosity or hemizygosity. Phenomenon can lead to cancers by loss of tumor suppressor genes.

lyonization A term used for the phenomenon of X inactivation, which was first proposed by the geneticist Mary Lyon.

Maxam-Gilbert method A method for determining the exact nucleotide sequence via a chemical degradation process.

mendelian inheritance A trait obeying Mendel's first law of independent segregation of the alleles at the same locus conveyed by each parent.

minimal promoter The minimal elements of a promoter, including the TATA box and transcription initiation site, which is inactive unless regulatory elements that enhance promoter activity are placed upstream; used to test candidate sequences for enhancer activity.

mismatch The presence in 1 chain of double-stranded DNA of a base that is not complementary to the corresponding base in the other chain. Also known as mispairing.

mitochondria A small, intracellular, spherical to rod-shaped cytoplasmic organelle, enclosed by Z membranous spaces; the inner membrane is folded, forming a series of projections called cristae. Mitochondria are the principal sites of ATP synthesis; they contain enzymes of the tricarboxylic acid cycle and enzymes for fatty acid oxidation, oxidative phosphorylation, and many other biochemical pathways. They contain their own nucleic acids and ribosomes, replicate independently, and code for the synthesis of some of their own proteins.

molecular hybridization The ability of a single-stranded DNA or RNA to anneal to its complementary single strand by Watson-Crick base pairing.

mobile elements DNA sequences that are capable of inserting themselves into other locations in the genome.

Mobility-shift assay An assay used to detect specific protein binding to DNA. Such binding creates complexes that migrate more slowly during gel electrophoresis than free DNA. Also known as gel-shift assay.

modifier gene A gene that alters the expression of a gene at another locus.

molecular genetics The study of the structure and function of genes at the molecular level.

monoclonal A group of cells that consist of a single clone, i.e., all cells are derived from the same single ancestral cell.

monogenic Describing a single gene or mendelian trait.

morphogen A protein present in embryonic tissues in a concentration gradient that induces a developmental process.

mosaic An individual or tissue with at least 2 cell lines differing in genotype or karyotype, derived from a single zygote.

monosomy An aneuploid condition in which a specific chromosome is present in only single copy, giving the individual a total of 45 chromosomes.

monozygotic Refers to twins derived from a single fertilized egg.

multipoint mapping A type of genetic mapping in which the recombination frequencies among 3 or more loci are estimated simultaneously.

murine Relating to mice or rats.

mutagen A substance that causes a mutation.

neurofibromin The protein product of the neurofibromatosis type 1 gene.

new mutation An alteration in DNA sequence that appears for the first time in a family as the result of a mutation in 1 of the parent's germ cell.

nondisjunction The failure of homologous chromosomes (in mitosis or meiosis 1) or sister chromatics (in meiosis 11) to separate properly into different progeny cells.

nonpenetrance Lack of clinical expression of the mutant phenotype in an individual with the appropriate genotype.

nuclear family A pair of biologic parents and their children.

nude mice Immunologically deficient mice used to permit growth of tumor cells from mouse and other species, such as human.

null mutation An allele that results in either the absence of the gene product or the absence of any function at the phenotypic level.

obligate heterozygote An individual who is clinically unaffected but, on the basis of pedigree analysis, must carry a particular mutant allele.

oligogenic diseases Diseases or traits that result from the effects of relatively few genes, some of which have rather large effects.

oligoprobe A short DNA probe whose hybridization is sensitive to a single base mismatch.

oncogenes Normal genes of vertebrates that are involved in control of cell growth and have been preserved throughout evolution. When mutated, overexpressed, or amplified in somatic cells, oncogenes may cause neoplastic transformation.

organelles Membrane-bound intracellular, cytoplasmic structures having specialized functions, e.g., mitochondria, plastics, Golgi apparatus, lysosomes.

origin of replication (ORI) The site where DNA replication starts.

outbred mouse strains Strains of mice propagated by nonstandardized matings. These mice retain substantial genetic variability.

PAC The artificial chromosome vector derived from the temperate bacteriophage, P1, used for cloning 100- to 200-kb DNA fragments.

palindrome In molecular biology, a nucleotide sequence in which the 5'to 3' sequence of 1 strand of a segment of DNA is the same as that of its complementary strand. The sites of many restriction enzymes are palindromes.

PEP Abbreviation for primer extension preamplification.

peptide fingerprint The chromatographic pattern of peptides obtained after partial hydrolysis of a protein or peptide. The technique also may be applied to DNA and RNA.

peroxisomal enzymes Enzymes localized to the peroxisomes. These enzymes are initially synthesized by the free polyribosomes and then enter the cytoplasm and eventually are localized to the peroxisomes. There are at least 40 enzymes. Some are involved in the production and decomposition of hydrogen peroxide and some are concerned with lipid and amino acid metabolism.

peroxisome A subcellular organelle surrounded by a single membrane containing at least 40 enzymes involved in energy production.

physical mapping The determination of the linear positions of genes on a DNA molecule; distances are measured in physical units, i.e., base pairs, kilobases, and megabases.

phytohemagglutinin Lectin isolated from the red bean used to agglutinate red blood cells and stimulate lymphocytes to divide; used in preparation of peripheral blood karyotypes.

platelet-derived growth factor (PDGF) A protein, produced by platelets and other cells, that strongly stimulates cell growth and division and is involved in normal wound healing. The gene for PDGF is identical to the proto-oncogene sis.

pulsed field electrophoresis An electrophoretic technique that allows the separation of relatively long (>5,000 kb) sequences of DNA.

point mutation A mutation in a single nucleotide.

polyadenylation The addition of approximately 200 adenosine residues at the 3' end of messenger RNAs, apparently involved in their transport of the nucleus and stability.

polymerases Enzymes that catalyze the combining of nucleotides to form RNA or DNA (genetic transcription and DNA replication).

polysomes (polyribosomes) Structures composed of multiple ribosomes attached to mRNA in the process of translation.

pronucleus Either of the 2 haploid gamete nuclei just prior to their fusion in the fertilized ovum. Transgenic lines are often generated by microinjection of the transgene into the pronuclear region of these haploid gametes.

proofreading The correction of errors in the nucleotide sequence that can occur during replication, transcription, or translation.

protein suicide mechanism In dominant disorders, 1 mutant subunit leads to the loss of function of an entire multimeric protein, e.g., collagen.

Proto-oncogenes Normal genes that are found in normal eukaryotic cells concerned with various aspects of cell division. If amplified, mutated, rearranged, or picked up by a retrovirus, they may give rise to oncogenes that can cause cancer.

pseudoautosomal region The distal tip of the Y chromosome short arm, which undergoes crossover with the distal tip of the X chromosome short arm during meiosis in the male.

quasidominance The pattern of inheritance produced by the mating of an affected homozygote with an individual heterozygous for the same recessive trait so that homozygous affected members appear in 2 or more successive generations.

Q-banding The pattern of bright and dim fluorescent crossbands seen on chromosomes under ultraviolet light after quinacrine mustard staining.

R-banding A chromosome banding technique in which chromosomes are heated in a phosphate buffer; produces dark and light bands in patterns that are the reverse of those produced by G-banding.

receptor A transmembrane or intracellular protein involved in transmission of a cell signal.

recombinant chromosome A chromosome in an offspring that has a genotype not found in either parent, due to crossing over in meiosis.

recombination fraction In linkage analysis, the fraction of meiotic events that show a recombination between 2 loci.

regulatory gene A gene coding for a protein that regulates other genes.

replication The identical duplication of DNA.

replication fork The unwound region of the DNA double helix in which replication takes place.

replication segregation Refers to changes in the proportions of mitochondrial DNA alleles as the mitochondria reproduce.

reporter gene A gene used to analyze another gene.

restriction digest The process in which DNA is exposed to restriction enzymes (restriction endonuclease), causing it to be cleaved into fragments of DNA called restriction fragments.

restriction map A map of a DNA sequence with restriction enzyme recognition sites serving as landmarks.

restriction site A short sequence in DNA that can be recognized and cut by a specific restriction endonuclease.

reverse genetics The application of human gene mapping to clone the gene responsible for a particular disease when no information about the biochemical basis of the disease is available.

ribosomes Cytoplasmic organelles composed of ribosomal RNA and protein, on which polypeptide synthesis from messenger RNA occurs.

ring chromosome A structurally abnormal chromosome in which the end of each chromosome arm has been deleted and the broken arms have reunited to form a ring.

RT-PCR Abbreviation for reverse transcriptase polymerase chain reaction.

Sanger method The enzymatic method for determining the exact nucleotide sequence of a cloned fragment of DNA.

satellite DNA A portion of the DNA that differs enough in base composition so that it forms a distinct band on cesium chloride gradient centrifugation; usually contains highly repetitive DNA sequences.

scaffold The nuclear structure observed when histones are experimentally removed from chromosomes. Thought to represent a structural component of the nucleus and of chromosome.

segregation The separation of allelic genes at meiosis. Because allelic genes occupy the same locus on homologous chromosomes, they pass to different gametes.

sequence-tagged site (STS) A short fragment of DNA whose exact sequence is found nowhere else in the genome; typically about 200 to 300 bp. Polymerase chain reaction can be used to amplify the known sequences, which can serve as physical landmarks for mapping.

sibship The group comprising all the siblings (brothers and sisters) in a family.

silent gene A mutant gene that has no detectable phenotypic effect.

silencer The cis regulatory element that reduces transcription of a gene.

site-directed mutagenesis The process of creating mutations at specific locations, in contrast to naturally occurring random mutations.

skewed X-inactivation A nonrandom pattern of inactivation of 1 of the X chromosomes in a female that can arise through a variety of mechanisms. When this occurs, the active X chromosome may bear the mutant allele and the female will show signs and symptoms of the disease. The female is called a manifesting heterozygote or a carrier.

somatic cell gene therapy The insertion of new DNA material into a particular tissue of an affected individual in such a way that the inserted DNA does not enter the germline.

SSCP Abbreviation for single-strand conformation polymorphism.

SSP Abbreviation for sequence-specific primer. These are used in PCR reactions.

STR Abbreviation for short tandem repeat. These often serve as polymorphic markers.

STS See sequence-tagged site.

STRP Abbreviation for short tandem repeat polymorphism.

syngeneic Refers to genetically identical members of the same species.

transcript map A genetic map in which expressed sequences, e.g., mRNAs, mRNA transcripts, corresponding to genes are mapped; a functional blueprint of the genome.

transforming retrovirus A retrovirus carrying an additional DNA sequence (often an oncogene) that confers the ability to transform infected cells to malignant phenotype.

transgene A foreign gene; typically, a gene produced by recombinant DNA techniques.

transposable element A DNA sequence that can move from one chromosomal location to another.

transversion A mutation in which purine is substituted for pyrimidine or vice versa.

triplet A sequence of 3 nucleotides comprising a codon of a nucleic acid and representing the code for an amino acid (triplet code, codon).

tumor-suppresser gene A gene thought to suppress formation of tumors; loss of suppression leads to malignant transformation. P53 is an example of a tumor-suppresser gene.

unequal crossing over Crossing over between similar DNA sequences that are misaligned, resulting in sequences with deletion or duplication of DNA segments. A cause of a number of genetic variants, e.g., -thalassemia and Lepore hemoglobin.

variable expressivity Refers to the variable severity of a genetic trait. Individuals with the same mutant gene with pleiotropic effects frequently show variable expressivity due to either environmental effects or effects of other genes modifying the expression of the mutant gene.

wild type The term used to indicate the normal allele (often symbolized as +) or the normal phenotype.

X-autosome translocation The reciprocal translocation between the X chromosome and 1 of the autosomes.

X-linked dominant A trait that is manifested in the heterozygous female as well as in the male who has the mutant allele on 1 of the X chromosomes.

X-linked recessive A disorder manifested exclusively in a male who is a heterozygote or a homozygous female when the abnormal gene is carried on the X chromosome. A female is usually a carrier if she is heterozygous and transmits the disease to the son.

zinc finger proteins Transcription-activator proteins containing finger-like structures containing zinc atoms.

zoo blot A Southern blot containing conserved DNA sequences from related genes of different species. It is taken as evidence that the sequences are coding sequences from a specific gene.

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References

Scharpf R. TBASE Glossary: The Transgenic/Targeted Mutation Database. Baltimore, Md: Johns Hopkins University School of Medicine (http://www.gdb.org/Dan/tbase/docs/glossary.html). Internet resource.

Bradley J. Johnsen D, Rubenstein D. Molecular Medicine. Oxford, England: Blackwell Science; 1995.

Thompson MW, McInnes RR, Willard HF. Genetics in Medicine. 5th ed. Philadelphia, Pa: WB Saunders;1991.


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